PIF1 PIF1 5'-to-3' DNA helicase [Homo sapiens (human)] - Gene

Summary

Official Symbol: PIF1provided by HGNC
Official Full Name: PIF1 5'-to-3' DNA helicaseprovided by HGNC
Primary source: HGNC:HGNC:26220
See related: Ensembl:ENSG00000140451 MIM:610953; AllianceGenome:HGNC:26220
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PIF; C15orf20
Summary: This gene encodes a DNA-dependent adenosine triphosphate (ATP)-metabolizing enzyme that functions as a 5' to 3' DNA helicase. The encoded protein can resolve G-quadruplex structures and RNA-DNA hybrids at the ends of chromosomes. It also prevents telomere elongation by inhibiting the actions of telomerase. Alternative splicing and the use of alternative start codons results in multiple isoforms that are differentially localized to either the mitochondria or the nucleus. [provided by RefSeq, Nov 2013]
Expression: Broad expression in lymph node (RPKM 2.4), appendix (RPKM 1.6) and 19 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 15q22.31

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (64815632..64827062, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (62624916..62636352, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (65107831..65117846, complement)

Chromosome 15 - NC_000015.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

PIF1 Promotes Autophagy to Inhibit Chronic Hypoxia Induced Apoptosis of Pulmonary Artery Endothelial Cells.
Title: PIF1 Promotes Autophagy to Inhibit Chronic Hypoxia Induced Apoptosis of Pulmonary Artery Endothelial Cells.
CircNEIL3 mediates pyroptosis to influence lung adenocarcinoma radiotherapy by upregulating PIF1 through miR-1184 inhibition.
Title: CircNEIL3 mediates pyroptosis to influence lung adenocarcinoma radiotherapy by upregulating PIF1 through miR-1184 inhibition.
PIF1 helicase promotes break-induced replication in mammalian cells.
Title: PIF1 helicase promotes break-induced replication in mammalian cells.
Mitochondrial genetic variation is enriched in G-quadruplex regions that stall DNA synthesis in vitro.
Title: Mitochondrial genetic variation is enriched in G-quadruplex regions that stall DNA synthesis in vitro.
Dynamic regulation of Pif1 acetylation is crucial to the maintenance of genome stability.
Title: Dynamic regulation of Pif1 acetylation is crucial to the maintenance of genome stability.
Downregulation of PIF1, a potential new target of MYCN, induces apoptosis and inhibits cell migration in neuroblastoma cells.
Title: Downregulation of PIF1, a potential new target of MYCN, induces apoptosis and inhibits cell migration in neuroblastoma cells.
PIF1 has a role in DNA resection, specifically for defined DNA regions, such as those prone to form G-quadruplexes.
Title: The Helicase PIF1 Facilitates Resection over Sequences Prone to Forming G4 Structures.
The functions of human PIF1 (hPIF1) are also critical for survival of certain tumour cell lines during replication stress, making it an important target for cancer therapy. Crystal structures of hPIF1 presented here explore structural events along the chemical reaction coordinate of ATP hydrolysis at an unprecedented level of detail
Title: Structural and functional analysis of the nucleotide and DNA binding activities of the human PIF1 helicase.
Structural and functional characterization of the unwinding mechanism of Bacteroides and human Pif1 helicases has been reported.
Title: Structural and Functional Insights into the Unwinding Mechanism of Bacteroides sp Pif1.
Authors characterised a functional role for human PIF1 in DNA replication that becomes important for cell growth under oncogenic stress.
Title: Human PIF1 helicase supports DNA replication and cell growth under oncogenic-stress.

Submit: New GeneRIF Correction See all GeneRIFs (22)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D15S1318 (e-PCR)
- UniSTS:66568

MARC_21552-21553:1044288241:1 (e-PCR)
- UniSTS:268577

PMC156606P1 (e-PCR)
- UniSTS:271408

D8S2279 (e-PCR)
- UniSTS:473907

D15S1318 (e-PCR)
- UniSTS:18518

L18426 (e-PCR)
- UniSTS:34648

SHGC-149483 (e-PCR)
- UniSTS:182880

D1S1423 (e-PCR)
- UniSTS:149619

NoName (e-PCR)
- UniSTS:486866

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 5'-3' DNA helicase activity	IBA Inferred from Biological aspect of Ancestor more info
enables 5'-3' DNA helicase activity	IDA Inferred from Direct Assay more info	PubMed
enables 5'-3' DNA/RNA helicase activity	IDA Inferred from Direct Assay more info	PubMed
enables 5'-3' DNA/RNA helicase activity	TAS Traceable Author Statement more info
enables ATP binding	IDA Inferred from Direct Assay more info	PubMed
enables ATP hydrolysis activity	IEA Inferred from Electronic Annotation more info
enables G-quadruplex DNA binding	IEA Inferred from Electronic Annotation more info
enables magnesium ion binding	IDA Inferred from Direct Assay more info	PubMed
enables single-stranded DNA helicase activity	IDA Inferred from Direct Assay more info	PubMed
enables telomerase inhibitor activity	IEA Inferred from Electronic Annotation more info
enables telomeric DNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in DNA duplex unwinding	IBA Inferred from Biological aspect of Ancestor more info
involved_in DNA recombination	IEA Inferred from Electronic Annotation more info
involved_in DNA repair	IEA Inferred from Electronic Annotation more info
involved_in DNA replication	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitochondrial genome maintenance	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of telomere maintenance via telomerase	IDA Inferred from Direct Assay more info	PubMed
involved_in protein-DNA-RNA complex disassembly	IDA Inferred from Direct Assay more info	PubMed
involved_in telomere maintenance via telomerase	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
located_in chromosome, telomeric region	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in replication fork	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: ATP-dependent DNA helicase PIF1

Names: DNA repair and recombination helicase PIF1; PIF1 5'-to-3' DNA helicase homolog; PIF1/RRM3 DNA helicase-like protein; petite integration frequency 1

NP_001273425.1

EC 3.6.4.12

NP_001273426.1

EC 3.6.4.12

NP_001273428.1

EC 3.6.4.12

NP_079325.2

EC 3.6.4.12

XP_011520385.1

EC 3.6.4.12

XP_011520386.1

EC 3.6.4.12

XP_047289096.1

EC 3.6.4.12

XP_054234875.1

EC 3.6.4.12

XP_054234876.1

EC 3.6.4.12

XP_054234877.1

EC 3.6.4.12

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001286496.2 → NP_001273425.1 ATP-dependent DNA helicase PIF1 isoform a

See identical proteins and their annotated locations for NP_001273425.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript. This variant can initiate translation from both an upstream and a downstream AUG start codon. The isoform represented in this variant (a, also known as alpha or alpha-1) initiates translation from the upstream AUG. This isoform localizes to the nucleus (PMID: 17827721). Variants 1 and 2 encode the same isoform (a).

Source sequence(s)

AB185926, BC033254, EU084033

Consensus CDS

CCDS10195.2

UniProtKB/Swiss-Prot

B2RPL7, Q1W5B6, Q330H5, Q33E24, Q9H611

Related

ENSP00000452792.1, ENST00000559239.2

Conserved Domains (4) summary

pfam05970
Location:206 → 504

PIF1; PIF1-like helicase

cl26464
Location:27 → 209

Atrophin-1; Atrophin-1 family

cl27278
Location:487 → 640

MobA_MobL; MobA/MobL family

cl28079
Location:551 → 599

Herpes_Helicase; Helicase
NM_001286497.2 → NP_001273426.1 ATP-dependent DNA helicase PIF1 isoform b

See identical proteins and their annotated locations for NP_001273426.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses an alternate splice site in the 5' UTR and contains an alternate exon structure in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (b, also known as beta) has a distinct C-terminus and is longer than isoform a. This isoform localizes to the mitochondria (PMID: 17827721).

Source sequence(s)

AB185927, EU084033

Consensus CDS

CCDS66797.1

UniProtKB/Swiss-Prot

Q9H611

Related

ENSP00000328174.6, ENST00000333425.10

Conserved Domains (2) summary

pfam05970
Location:206 → 504

PIF1; PIF1-like helicase

pfam02689
Location:551 → 611

Herpes_Helicase; Helicase
NM_001286499.2 → NP_001273428.1 ATP-dependent DNA helicase PIF1 isoform c

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript. This variant can initiate translation from both an upstream and a downstream AUG start codon. The isoform represented in this variant (c, also known as alpha-54) initiates translation from a downstream AUG. This isoform localizes to the mitochondria (PMID: 23275553).

Source sequence(s)

AB185926, BC033254, EU084033

UniProtKB/Swiss-Prot

Q9H611

Conserved Domains (2) summary

pfam05970
Location:153 → 451

PIF1; PIF1-like helicase

pfam02689
Location:498 → 558

Herpes_Helicase; Helicase
NM_025049.4 → NP_079325.2 ATP-dependent DNA helicase PIF1 isoform a

See identical proteins and their annotated locations for NP_079325.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate splice site in the 5' UTR, compared to variant 1. This variant can initiate translation from both an upstream and a downstream AUG start codon. The isoform represented in this variant (a, also known as alpha or alpha-1) initiates translation from the upstream AUG. This isoform localizes to the nucleus (PMID: 17827721). Variants 1 and 2 encode the same isoform (a).

Source sequence(s)

AB185926, AC091582

Consensus CDS

CCDS10195.2

UniProtKB/Swiss-Prot

B2RPL7, Q1W5B6, Q330H5, Q33E24, Q9H611

Related

ENSP00000268043.4, ENST00000268043.8

Conserved Domains (4) summary

pfam05970
Location:206 → 504

PIF1; PIF1-like helicase

cl26464
Location:27 → 209

Atrophin-1; Atrophin-1 family

cl27278
Location:487 → 640

MobA_MobL; MobA/MobL family

cl28079
Location:551 → 599

Herpes_Helicase; Helicase

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000015.10 Reference GRCh38.p14 Primary Assembly

Range

64815632..64827062 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011522083.3 → XP_011520385.1 ATP-dependent DNA helicase PIF1 isoform X1

See identical proteins and their annotated locations for XP_011520385.1

UniProtKB/Swiss-Prot

B2RPL7, Q1W5B6, Q330H5, Q33E24, Q9H611

Conserved Domains (4) summary

pfam05970
Location:206 → 504

PIF1; PIF1-like helicase

cl26464
Location:27 → 209

Atrophin-1; Atrophin-1 family

cl27278
Location:487 → 640

MobA_MobL; MobA/MobL family

cl28079
Location:551 → 599

Herpes_Helicase; Helicase
XM_011522084.3 → XP_011520386.1 ATP-dependent DNA helicase PIF1 isoform X1

See identical proteins and their annotated locations for XP_011520386.1

UniProtKB/Swiss-Prot

B2RPL7, Q1W5B6, Q330H5, Q33E24, Q9H611

Conserved Domains (4) summary

pfam05970
Location:206 → 504

PIF1; PIF1-like helicase

cl26464
Location:27 → 209

Atrophin-1; Atrophin-1 family

cl27278
Location:487 → 640

MobA_MobL; MobA/MobL family

cl28079
Location:551 → 599

Herpes_Helicase; Helicase
XM_047433140.1 → XP_047289096.1 ATP-dependent DNA helicase PIF1 isoform X2